Mapping the Constrained Coding Regions in the Human Genome to Their Corresponding Proteins.

ABSTRACT: Constrained Coding Regions (CCRs) in the human genome have been derived from DNA sequencing data of large cohorts of healthy control populations, available in the Genome Aggregation Database (gnomAD) [1]. They identify regions depleted of protein-changing variants and thus identify segments of the genome that have been constrained during human evolution. By mapping these DNA-defined regions from genomic coordinates onto the corresponding protein positions and combining this information with protein annotations, we have explored the distribution of CCRs and compared their co-occurrence with different protein functional features, previously annotated at the amino acid level in public databases. As expected, our results reveal that functional amino acids involved in interactions with DNA/RNA,

SUBMITTER: Hasenahuer MA 

PROVIDER: S-EPMC9875310 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature